GNAS1基因T393C单核苷酸多态性与非瓣膜性房颤的相关性

目的分析中国汉族人群Gs蛋白α亚基基因（GNAS1）T393C单核苷酸多态性（SNP）与非瓣膜性房颤是否存在相关性。方
法分别选取非瓣膜性房颤患者90例及正常对照90例，采用PCR-RFLP分析非瓣膜性房颤患者GNAS1基因T393C等位基因型
及等位基因频率分布特点，并通过研究其与心率变异性（HRV）的关系，从而分析GNAS1基因T393C位点与非瓣膜性房颤患者
自主神经活动规律的关系。结果GNAS1基因T393C多态性等位基因型频率和等位基因频率在两组间比较具有显著性差异
（P<0.01），CC基因型及T393C等位基因的频率在病例组中显著增高；pNN50、LF、LF/HF在不同基因型间差异有统计学意义
（P<0.05）。结论GNAS1基因T393C SNP可能与中国汉族人群非瓣膜性房颤的发生有明显的相关性。

Association of T393C single nucleotide polymorphism of GNAS1 gene with non-valvular atrial fibrillation

Objective To analyze the association between T393C single nucleotide polymorphism (SNP) of GNAS1 gene and
non-valvular atrial fibrillation (AF) in Chinese Han patients. Methods Ninety patients with non-valvular AF and 90 healthy
subjects were examined for T393C SNP of GNAS1 gene using polymerase chain reaction-restriction fragment length
polymorphism (PCR-RFLP). The allele genotypes and the distribution of allele frequencies were analyzed and compared
between the two groups. The relationship between allele frequency distribution characteristics and the heart rate variability
(HRV) were also studied for analysis of the association between T393C SNP of GNAS1 gene and the autonomic nervous
activation in non-valvular AF. Results The two groups showed a significant difference in the frequencies of genotypes of
T393C SNP of GNAS1 gene and allele frequencies (P<0.01). CC genotype and T393C allele frequency were significantly
increased in the case group. pNN50, LF, or LF/HF showed no significant difference between different genotypes (P<0.05).
Conclusion The T393C SNP of GNAS1 gene is closely associated with non-valvular AF in Chinese Han patients.